Disease Term Disease ID Gene Symbol Classification References Source
Congenital amegakaryocytic thrombocytopenia 3319, C1327915 MPL Causal Pathogenic evidence from ClinVar 8073287, 10971406, 11133753, 11972523, 16470591, 17666371, 18024606, 18240171, 18422784, 19036112, 19302922, 21489838, 21659346, 22180433, 23625800, 24438083, 24728327, 25538044, 27418648, 28859041 ClinVar